[source]
pmid = PMID:23726037
title = The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing
[diagnosis]
disease_id = OMIM:604804
disease_label = Microcephaly 3, primary, autosomal recessive
[text]
The patient, a 6 year old Caucasian female, was the product of a triplet pregnancy born at 33 weeks gestation.
She was noted, in utero, to have a smaller head than either of her siblings, and by parents’ report at 30 days of age
her head circumference was 30 cm (−2 SD on preterm growth curve).
At birth, she was noted to have issues with temperature regulation, waking and feeding, but was able to be discharged
with her siblings at 29 days of age. Besides a history of short stature, delayed bone age, asthma, environmental allergies
and a question of sleep apnea, she has been generally in good health. Primary concerns for the patient has been with her development.
 While motor milestones were met fairly normally, her cognitive, language, and fine motor/adaptive skills were delayed.
 She required early intervention and attended developmental preschool. For the current school year she is in an integrated
 1st grade class with an aide. She receives occupational therapy to assist with visual motor integration, speech therapy to
 improve her articulation, and extra help for reading. Most recent measures of general intelligence (performed at 6½ years of age)
 reveal a below average full scale IQ of 75 with greatest impairment in processing speed. On the Wechsler Preschool and
 Primary Scale of Intelligence III Revised (for children 2 years 6 m – 7 years 3 m), she obtained a Verbal IQ of 83,
 Nonverbal IQ of 75, and Processing speed 71. On the Wechsler Individual Achievement Testing (WIAT) she showed
 significant struggles in secondary language on tasks of early reading (SS 60), word reading (SS 70), reading comprehension (SS 69)
 and struggles in math on the task of numerical operations (SS 61) (WPPSI – R and WIAT mean = 100 and SD = 15).
 Parents report subjectively that differences in development relative to her sisters are becoming more apparent with time.

In terms of the patient’s family history, the patient was born to a Northern European mother and Caucasian father with
Cherokee ancestry with no reported consanguinity (Fig. 1b). The patient’s family history was remarkable for benign familial
epilepsy and pseudohypoparathyroidism in her older sibling, history of seizures on her maternal side and a history of attention
deficient disorder and cleft palate on the paternal side. Head circumferences measurements were taken on the patient’s
three sisters and were all well within the normal range.